Servicio de Neurología, Hospital Universitario, Universidad Autónoma de Nuevo León (UANL), Monterrey, NL, Mexico.
Neurosci Lett. 2010 Jan 14;468(3):264-6. doi: 10.1016/j.neulet.2009.11.009. Epub 2009 Nov 10.
Early- and late-onset Parkinson's disease (EOPD and LOPD) have been associated with mutations in the PARKIN gene. Several studies have reported association of Parkinson's disease (PD) with different polymorphisms in different ethnic populations. To study the role of PARKIN polymorphisms as risk factors for PD in a genetically homogeneous northeastern Mexican population, four previously described coding polymorphisms (Ser167Asn, Val380Leu, Arg366Trp, and Asp394Asn) were analyzed by using the PCR-RFLP technique. This case-control study comprised 117 unrelated patients (mean age 59+/-12 years, range 25-83 years) and 122 healthy unrelated control subjects (mean age 50+/-15 years, range 25-85 years). The homozygous Trp366 and Asn394 genotypes were not present in our study. The Ser167Asn and Val380Leu polymorphisms were not associated with this disease. For the control group, Ser167Asn and Val380Leu were in Hardy-Weinberg disequilibrium. Given that the main causes of Hardy-Weinberg disequilibrium in controls are selection bias or genotyping error, a competing risk of death associated with the mutant gene could be an explanation of this disequilibrium and lack of association.
早发性和晚发性帕金森病(EOPD 和 LOPD)与 PARKIN 基因突变有关。几项研究报告了帕金森病(PD)与不同种族人群中不同多态性之间的关联。为了研究 PARKIN 多态性作为遗传均质的墨西哥东北部人群中 PD 的风险因素的作用,使用 PCR-RFLP 技术分析了先前描述的四个编码多态性(Ser167Asn、Val380Leu、Arg366Trp 和 Asp394Asn)。这项病例对照研究包括 117 名无关患者(平均年龄 59+/-12 岁,范围 25-83 岁)和 122 名健康无关对照(平均年龄 50+/-15 岁,范围 25-85 岁)。我们的研究中不存在纯合 Trp366 和 Asn394 基因型。Ser167Asn 和 Val380Leu 多态性与该疾病无关。对于对照组,Ser167Asn 和 Val380Leu 处于 Hardy-Weinberg 不平衡状态。鉴于对照组 Hardy-Weinberg 不平衡的主要原因是选择偏差或基因分型错误,与突变基因相关的死亡竞争风险可能是这种不平衡和缺乏关联的解释。